SCN1A c.3955_3956delinsCA ;(p.R1319Q)

Variant ID: 2-166866275-CT-TG

NM_001165963.1(SCN1A):c.3955_3956delinsCA;(p.R1319Q)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Structure-based assessment of disease-related mutations in human voltage-gated sodium channels.

Protein & Cell
Huang, Weiyun W; Liu, Minhao M; Yan, S Frank SF; Yan, Nieng N
Publication Date: 2017-06

Variant appearance in text: Nav1.1: R1319Q
PubMed Link: 28150151
Variant Present in the following documents:
  • Main text
View BVdb publication page



Sodium channel gene family: epilepsy mutations, gene interactions and modifier effects.

The Journal Of Physiology
Meisler, Miriam H MH; O'Brien, Janelle E JE; Sharkey, Lisa M LM
Publication Date: 2010-06-01

Variant appearance in text: SMEI: R1319Q
PubMed Link: 20351042
Variant Present in the following documents:
  • Main text
View BVdb publication page